Evidence for 28 genetic disorders discovered by combining healthcare and research data.

ABSTRACT: De novo mutations in protein-coding genes are a well-established cause of developmental disorders¹. However, genes known to be associated with developmental disorders account for only a minority of the observed excess of such de novo mutations^1,2. Here, to identify previously undescribed genes associated with developmental disorders, we integrate healthcare and research exome-sequence data from 31,058 parent-offspring trios of individuals with developmental disorders, and develop a simulation-based statistical test to identify gene-specific enrichment of de novo mutations. We identified 285 genes that were significantly associated with developmental disorders, including 28 that had not previously been robustly associated with developmental disorders. Although we detec

SUBMITTER: Kaplanis J 

PROVIDER: S-EPMC7116826 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature